Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype.
Fibrochondrogenesis is a very rare form of lethal short-limb dwarfism, with 8 cases described since it was first reported in 1978. It is becoming clear that this condition has certain radiological and histological characteristics that distinguish it from other skeletal dysplasias. We herein present a further case of fibrochondrogenesis diagnosed in a fetus of 17 weeks, which is the youngest patient reported so far. In addition, the fetus showed severe micrognathia and a bifid tongue. These are not previously described manifestations, which extend the phenotype of this rare condition.
Hunt
N C
NC
Fetal Malformation Unit, Institute for Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom.
Vujanić
G M
GM
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001842:Bone and Bones / Q000002:abnormalities; D004392:Dwarfism / Q000235:genetics / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005260:Female; D005269:Femur / Q000002:abnormalities; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D008844:Micrognathism / Q000473:pathology; D010009:Osteochondrodysplasias / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012886:Skull / Q000002:abnormalities; D014059:Tongue / Q000002:abnormalities